The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
Variant: NM_000156.6:c.590T>C
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA402990982
Gene: GAMT
Condition: guanidinoacetate methyltransferase deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 70289cf1-f13c-4317-b172-1ab3d6434b82
Approved on: 2023-05-25
Published on: 2023-05-25
HGVS expressions
NM_000156.6:c.590T>C
NC_000019.10:g.1397480A>G
CM000681.2:g.1397480A>G
NC_000019.9:g.1397479A>G
CM000681.1:g.1397479A>G
NC_000019.8:g.1348479A>G
NG_008283.1:g.18597A>G
NG_009785.1:g.9074T>C
ENST00000252288.8:c.590T>C
ENST00000640164.1:n.423T>C
ENST00000640762.1:c.521T>C
ENST00000252288.6:c.590T>C
NM_000156.5:c.590T>C
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Evidence submitted by expert panel
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